Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

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作者： F,Petrij ^[1] ; H G,Dauwerse ; R I,Blough ; R H,Giles ; J J,van der Smagt ; R,Wallerstein ; P D,Maaswinkel-Mooy ; C D,van Karnebeek ; G J,van Ommen ; A,van Haeringen ; J H,Rubinstein ; H M,Saal ; R C,Hennekam ; D J,Peters ; M H,Breuning

作者单位： Departments of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands. ^[1]

主题词氨基酸序列(Amino Acid Sequence);碱基序列(Base Sequence);CREB结合蛋白质(CREB-Binding Protein);黏粒(Cosmids);DNA突变分析(DNA Mutational Analysis);基因缺失(Gene Deletion);遗传载体(Genetic Vectors);人类(Humans);原位杂交, 荧光(In Situ Hybridization, Fluorescence);核型分析(Karyotyping);分子序列数据(Molecular Sequence Data);核蛋白质类(Nuclear Proteins);Rubinstein-Taybi综合征(Rubinstein-Taybi Syndrome);反式激活因子类(Trans-Activators)

DOI 10.1136/jmg.37.3.168

PMID 10699051

发布时间 2019-05-03

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Journal of medical genetics

2000年37卷3期

168-76页

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Journal of medical genetics

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Journal of medical genetics

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Journal of medical genetics

相似文献

Journal of medical genetics

相关期刊

检索历史清除